新生儿Omenn综合征

Neonatal Omenn syndrome

报告1例新生儿Omenn综合征。患儿女,16 d。全身潮红伴脱屑15 d。体格检查:全身皮肤浸润、潮红。腹部膨隆,肝脾淋巴结肿大。实验室检查:外周血白细胞升高,嗜酸性粒细胞明显增多;B淋巴细胞缺如;血清IgG、IgA、IgM极低,IgE显著升高。骨髓检查:嗜酸性粒细胞比例明显升高。诊断:Omenn综合征。

A 16-day old female infant presented with generalized scaly erythroderma for 15 d.Physical examinations showed generalized erythrodermas,abdominal bulging,hepatomegaly and lymphadenopathy.Laboratory and auxiliary examinations demonstrated increased blood WBC and eosinophils,absence of CD19 positive B cells,and decreased levels of IgG,IgA and IgM,along with elevated IgE levels in the serum.Bone marrow examination showed a significant increase in proportion of eosinophils.The diagnosis of Omenn Syndrome was established according to these typical manifestations.